Canonical Allele Identifier: CA381653927
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937023C>G , CM000673.2:g.68937023C>G GRCh38
NC_000011.9:g.68704491C>G , CM000673.1:g.68704491C>G GRCh37
NC_000011.8:g.68461067C>G NCBI36
NG_007976.1:g.38173C>G , LRG_250:g.38173C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2543C>G MANE Select ENSP00000255078.4:p.Pro848Arg
ENST00000674675.1:c.688C>G
ENST00000674878.1:c.648C>G
ENST00000675118.1:c.2031C>G
ENST00000675389.1:n.818C>G
ENST00000675615.1:c.2543C>G ENSP00000502413.1:p.Pro848Arg
ENST00000675648.1:n.1918C>G
ENST00000675916.1:c.787C>G
ENST00000676173.1:n.3288C>G
ENST00000676182.1:c.974C>G
ENST00000676228.1:c.*1866C>G ENSP00000502375.1:n.*1866C>G
ENST00000255078.7:c.2543C>G ENSP00000255078.3:p.Pro848Arg
ENST00000539064.5:n.2302C>G
ENST00000543739.5:n.1536C>G
NM_002180.2:c.2543C>G , LRG_250t1:c.2543C>G NP_002171.2:p.Pro848Arg
XM_005273974.2:c.1532C>G XP_005274031.1:p.Pro511Arg
XM_005273975.2:c.1415C>G XP_005274032.1:p.Pro472Arg
XM_011544994.1:c.1310C>G XP_011543296.1:p.Pro437Arg
XR_949903.1:n.2645C>G
XM_005273975.3:c.1415C>G XP_005274032.1:p.Pro472Arg
XM_017017669.2:c.1532C>G XP_016873158.1:p.Pro511Arg
XM_017017670.2:c.1532C>G XP_016873159.1:p.Pro511Arg
XR_949903.3:n.2641C>G
NM_002180.3:c.2543C>G MANE Select NP_002171.2:p.Pro848Arg